Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Research Abstract Details 

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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Abstract Text:

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS loci, mapping to chromosomes 2, 3, 11, 15, 16 and 20. The BBS2 locus was initially mapped to an 18 cM interval on chromosome 16q21 with a large inbred Bedouin kindred. Further analysis of the Bedouin population allowed for the fine mapping of this locus to a 2 cM region distal to marker D16S408. Physical mapping and sequence analysis of this region resulted in the identification of a number of known genes and expressed sequence tag clusters. Mutation screening of a novel gene (BBS2) with a wide pattern of tissue expression revealed homozygous mutations in two inbred pedigrees, including the large Bedouin kindred used to initially identify the BBS2 locus. In addition, mutations were found in three of 18 unrelated BBS probands from small nuclear families.

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Publishing Authors By Initials

For similar animals: chordata: vertebrates: mammals: rodentia: muridae: murinae: rats research abstracts see: animals: chordata: vertebrates: mammals: rodentia: muridae: murinae: rats research

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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Human molecular genetics

VOLUME: 10

Page Numbers: 865-74

Journal Abbreviation: Hum. Mol. Genet.

ISSN: 0964-6906

DAY: 1

MONTH: Apr

YEAR: 2001

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Information

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LANGUAGE: eng

NlmUniqueID: 9208958

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Keywords Mesh Terms:

KEYWORDS: Rats

MESH TERMS: genetics

Chemical & Substance for Abstract: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Information

Substance Name: bardet-biedl syndrome 2 protein, mouse

Registry Number: 0

Grant and Affiliation Information for Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

AFFILIATION: Department of Pediatrics and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242, USA.

Country: England

AGENCY: United States NEI

GRANT: R01-EY-11298

ACRONYM: EY

MEDLINETA: Hum Mol Genet

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